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Comprehensive EMX2 genotyping of a large schizencephaly case series.
Tietjen I, Bodell A, Apse K, Mendonza AM, Chang BS, Shaw GM, Barkovich AJ, Lammer EJ, Walsh CA. Tietjen I, et al. Among authors: bodell a. Am J Med Genet A. 2007 Jun 15;143A(12):1313-6. doi: 10.1002/ajmg.a.31767. Am J Med Genet A. 2007. PMID: 17506092
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA. Shen J, et al. Among authors: bodell a. Nat Genet. 2010 Mar;42(3):245-9. doi: 10.1038/ng.526. Epub 2010 Jan 31. Nat Genet. 2010. PMID: 20118933 Free PMC article.
Periventricular heterotopia associated with chromosome 5p anomalies.
Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. Sheen VL, et al. Among authors: bodell a. Neurology. 2003 Mar 25;60(6):1033-6. doi: 10.1212/01.wnl.0000052689.03214.61. Neurology. 2003. PMID: 12654978
32 results